Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift


If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that ‘actionable’ genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings—so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.


  • Guido de Wert
  • Wybo Dondorp
  • Angus Clarke
  • Elisabeth M.C. Dequeker
  • Christophe Cordier
  • Zandra Deans
  • Carla G. van El
  • Florence Fellmann
  • Ros Hastings
  • Sabine Hentze
  • Heidi Howard
  • Milan Macek
  • Alvaro Mendes
  • Chris Patch
  • Emmanuelle Rial-Sebbag
  • Vigdis Stefansdottir
  • Martina C. Cornel
  • Francesca Forzano
Enheter & grupper
Externa organisationer
  • Maastricht University
  • Cardiff University
  • Catholic University of Leuven
  • Synlab Services GmbH
  • Royal Infirmary of Edinburgh
  • University of Lausanne
  • John Radcliffe Hospital
  • Chalmers Tekniska Högskola
  • University Hospital Motol
  • Instituto de Biologia Molecular e Celular
  • Queen Mary University
  • Université Paul Sabatier
  • National University Hospital of Iceland
  • Guy's and St Thomas' NHS Foundation Trust
  • Vrije Universiteit Amsterdam
  • Synlab Services LLC
  • Charles University in Prague
  • University of Porto
  • Wellcome Trust Genome Campus

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Medicinsk genetik
TidskriftEuropean Journal of Human Genetics
StatusE-pub ahead of print - 2020 nov 22
Peer review utfördJa